Progressive Myoclonus Epilepsies

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A comprehensive book on the current state of knowledge about this group of rare diseases

1. The history of progressive myoclonus epilepsies 11,30 €
1.22MB
2. Neurophysiology of myoclonus and progressive myoclonus epilepsies 11,30 €
1.92MB
3. Unverricht-Lundborg disease 11,30 €
104.86KB
4. Lafora disease 11,30 €
4.19MB
5. SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome 11,30 €
750.83KB
6. Neuronal ceroid lipofuscinoses 11,30 €
1.95MB
7. Sialidoses 11,30 €
268.52KB
8. Myoclonic epilepsy in mitochondrial disorders 11,30 €
737.63KB
9. Progressive myoclonic epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis) 11,30 €
254.44KB
10. GOSR2: a progressive myoclonus epilepsy gene 11,30 €
458.14KB
11. KCTD7-related progressive myoclonic epilepsy 11,30 €
611.98KB
12. Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis 11,30 €
3.22MB
13. Spinal muscular atrophy associated with progressive myoclonic epilepsy 11,30 €
72.77KB
14. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations 11,30 €
128.34KB
15. Autosomal dominant cortical tremor, myoclonus and epilepsy 11,30 €
1.04MB
16. Myoclonus and seizures in PMEs: pharmacology and therapeutic trials 11,30 €
95.02KB
17. Post-modern therapeutic approaches for progressive myoclonus epilepsy 11,30 €
61.61KB
Pages: 216
Format: 17 x 24 cm
ISBN : 978-2-7420-1488-0
ISBN élec : 978-2-7420-1525-2
Printed in: English
Publication date: 23/01/2017

Progressive myoclonus epilepsies are a group of rare genetic diseases. The onset generally occurs around puberty in otherwise healthy children. They all involve myoclonus and epilepsy but then differ depending on the different symptoms that are related.

The outlook of these diseases is nearly always unfavourable and treatment only focuses on symptoms. Much planning will be needed to improve the quality of life for these children who will gradually become over time more and more severely disabled.

Among these diseases, the most notable is Unverricht-Lundborg disease and Lafora disease, among others. However, the genetic mechanism of these diseases is simple and has been perfectly identified over time thanks to advancements in scientific discoveries. Hope lies in gene therapy, which in the near future will most likely be able to optimise treatment and even cure these children.

This book addresses the situation by relying on clinicians’ descriptions, studies led by biologists on genetic variations and mutations and the work carried out daily by numerous scientists researching into treatment.

By retracing the history of these diseases, from discovery and identification of mutated genes to the review of syndromes they encompass, this book marks the path we have travelled but also the distance we have yet to go.

Issue paired with Epileptic Disorders The Educational ILAE Journal.

Berge A Minassian, Senior Scientist, Genetics & Genome Biology, Associate Professor, University of Toronto, SickKids, Toronto, Canada

Pasquale Striano, Associate Professor, Department of Neurosciences, G. Gaslini Institute, University of Genoa, Genoa, Italy.

Giuliano Avanzini, Former President of the International League Against Epilepsy (ILAE) Istituto Neurologico Carlo Besta, Milan, Italy